De Langhe et al. Journal of Medical Case Reports (2015) 9:82 DOI 10.1186/s13256-015-0571-2
JOURNAL OF MEDICAL
CASE REPORTS CASE REPORT
Open Access
Mechanic’s hands in a woman with undifferentiated connective tissue disease and interstitial lung disease – anti-PL7 positive antisynthetase syndrome: a case report Ellen De Langhe1*, Jan Lenaerts1, Xavier Bossuyt2, Rene Westhovens1 and Wim A Wuyts3
Abstract Introduction: Interstitial lung disease can be idiopathic or occur in the setting of connective tissue diseases. In the latter case it requires a different treatment approach with a better prognosis. Interstitial lung disease can precede the onset of typical connective tissue disease features by many years, and therefore meticulous multidisciplinary follow-up is crucial. This case highlights the diagnostic challenge and the need for intensified attention for subtle clinical features when faced with interstitial lung disease in patients with characteristics of a hitherto undifferentiated connective tissue disease. Case presentation: A 44-year-old Caucasian woman presented to our pulmonology department with dyspnea, Raynaud’s phenomenon and subtle swelling of fingers and eyelids. Laboratory analysis and autoantibody screening was negative. She was diagnosed with nonspecific interstitial pneumonia with a concurring undifferentiated connective tissue disease. After four years of stable disease, she presented with rapid pulmonary deterioration, myalgia, periorbital edema, arthritis and a cracked appearance of the radial sides of the fingers of both her hands. This clinical sign was recognized as mechanic’s hands and a specific search for the presence of antisynthetase antibodies was performed. She was found to harbor anti-threonyl-tRNA synthetase antibodies. A diagnosis of antisynthetase syndrome was made and she was treated with glucocorticoids and immunosuppressives. Conclusions: This case highlights the difficulty in fine-tuning the diagnosis when confronted with a patient with interstitial lung disease and the suspicion of an underlying, yet undifferentiated connective tissue disease. There is a strong need for clinical multidisciplinary follow-up of these patients, with a high level of alertness to rare and specific clinical signs. The diagnosis of the underlying connective tissue disease profoundly influences the management of the interstitial lung disease. Recent data stress that identification of the autoantibody specificity allows for further prognostic stratification and therefore should be pursued. Keywords: Antisynthetase syndrome, Connective tissue diseases, Dermatomyositis, Pulmonary fibrosis
* Correspondence:
[email protected] 1 Department of Rheumatology, University Hospitals Leuven, Herestraat 49, Leuven 3000, Belgium Full list of author information is available at the end of the article © 2015 De Langhe et al.; licensee BioMed Central. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
De Langhe et al. Journal of Medical Case Reports (2015) 9:82
Introduction Interstitial lung disease (ILD) can occur in the setting of almost all connective tissue diseases (CTDs). CTDassociated ILD warrants specific treatment strategies, based on glucocorticoids and immunosuppressive agents and confers a better prognosis [1]. The recognition of the underlying CTD is therefore crucial but is often hampered and the diagnosis is missed. This can be attributed to various reasons. For one, it is known that ILD may precede the appearance of typical extrathoracic CTD features by many years [2]. Furthermore, the initial presentation of the CTD may be subtle and easily overlooked when no meticulous long-term multidisciplinary follow-up is organized. Moreover, many autoantibodies are rare and not routinely tested, and a negative screening assay for antinuclear antibodies (ANA) and antihistidyl-tRNA synthetase (anti-Jo-1) antibodies may mislead the treating clinician. We present a case of a woman, diagnosed with nonspecific interstitial pneumonia (NSIP) with the concurrent suspicion of an underlying CTD in 2008, but not meeting classification criteria for any specific CTD. After four years of stable disease she presented with sudden pulmonary and systemic deterioration with the appearance of mechanic’s hands, pointing to a diagnosis of underlying antisynthetase syndrome (ASS) and resulting in reorientation of therapeutic strategies. Case presentation In 2008, a 44-year-old Caucasian woman presented to our pulmonary out-patient clinic with progressive dyspnea and cough. She mentioned recent swelling of her fingers and eyelids. Furthermore, Raynaud’s phenomenon was present for many years and she complained of a pruritic rash on the inner side of her right thigh and widespread arthralgia. On clinical examination we found bibasilar crackles, puffy fingers and swollen eyelids. On her right thigh we observed a discrete macular rash. Pulmonary function tests noted normal lung volumes and a reduced diffusion capacity: forced vital capacity (FVC) 85%; forced expiratory volume in 1 second (FEV1) 85%; carbon monoxide diffusion capacity (DLCO) 46%. High-resolution computed tomography (HRCT) demonstrated ground-glass opacities in both lung bases, with limited honeycombing, compatible with NSIP (Figure 1). Bronchoalveolar lavage (BAL) analysis revealed increased cellularity (37.04×106 cells/microliter) with increased lymphocyte (25.6%) and eosinophil count (12.4%). Laboratory analysis noted mild inflammation (C-reactive protein, CRP, 12mg/L), normal liver tests and a normal creatine kinase level. ANA were negative and no anticytoplasmic staining was detected on indirect immunofluorescence (IIF). Rheumatoid factor and anti-cyclic citrullinated protein antibodies were
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Figure 1 High-resolution computed tomography image. Image compatible with nonspecific interstitial pneumonia showing groundglass opacities in both lung bases.
negative. No specific search for the presence of antisynthetase antibodies was performed. Capillaroscopy showed only aspecific findings with two megacapillaries, insufficient for a diagnosis of systemic sclerosis. She was diagnosed with NSIP with a high suspicion of an underlying CTD, because of the presence of Raynaud’s phenomenon, puffy fingers, a NSIP pattern on HRCT and the lymphocytic BAL formula. However, the absence of ANA and the absence of a clear signature on capillaroscopy led to the diagnosis of undifferentiated CTD (UCTD). She was monitored with regular clinical, laboratory, radiological and lung function evaluations. All parameters remained stable for four years. Suddenly, she presented with progressive dyspnea, fever, night sweats, weight loss, myalgia and muscle weakness, arthralgia, swollen eyelids and cracked fingers (Figure 2). A clinical examination revealed a febrile, discrete hypotensive and tachycardic patient (39°C, blood pressure 101/57mmHg, pulse rate 101 beats per minute). We noted a heliotropic rash, polyarthritis of hand proximal interphalangeal joints as well as proximal and distal muscular weakness and tenderness. The skin on the radial side of her first to third fingers of both hands appeared hyperkeratotic and cracked, compatible with mechanic’s hands. Laboratory analysis documented severe inflammation (erythrocyte sedimentation rate 112mm/hour, CRP 192.2mg/L) and elevated creatine kinase levels (713U/L, normal